Purine Nucleotide Synthesis Disorders
Purines are key components of cellular energy systems (eg, ATP, NAD), signaling (eg, GTP, cAMP, cGMP), and, along with pyrimidines, RNA and DNA production.
Purines may be synthesized de novo or recycled by a salvage pathway from normal catabolism.
The end product of complete catabolism of purines is uric acid.
In addition to purine nucleotide synthesis disorders, purine metabolism disorders (see also table Purine Metabolism Disorders) include
Diagnosis of phosphoribosylpyrophosphate synthetase superactivity is by DNA analysis.
Phosphoribosylpyrophosphate synthetase superactivity treatment is with allopurinol and a low-purine diet.
This autosomal recessive disorder causes profound intellectual disability, autistic behavior, and seizures.
Diagnosis of adenylosuccinase deficiency is by DNA analysis.
There is no effective treatment for adenylosuccinase deficiency.